LDH info

Canonical Allele Identifier: CA16041292
Gene: FKTN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371297
ClinVar RCV Id: RCV000409546
dbSNP Id: rs1057517160

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.105607829_105607832del , CM000671.2:g.105607829_105607832del GRCh38
NC_000009.11:g.108370110_108370113del , CM000671.1:g.108370110_108370113del GRCh37
NC_000009.10:g.107409931_107409934del NCBI36
NG_008754.1:g.54700_54703del , LRG_434:g.54700_54703del

Transcript Alleles

HGVS Amino-acid change
NM_001079802.1:c.658_661del , LRG_434t1:c.658_661del NP_001073270.1:p.Gln220LysfsTer19
NM_001198963.1:c.658_661del VV NP_001185892.1:p.Gln220LysfsTer19
NM_006731.2:c.658_661del , LRG_434t2:c.658_661del NP_006722.2:p.Gln220LysfsTer19
XM_006717014.2:c.658_661del XP_006717077.1:p.Gln220LysfsTer19
XM_011518368.1:c.658_661del XP_011516670.1:p.Gln220LysfsTer19
XM_011518369.1:c.658_661del XP_011516671.1:p.Gln220LysfsTer19
XM_011518370.1:c.658_661del XP_011516672.1:p.Gln220LysfsTer19
XM_011518371.1:c.658_661del XP_011516673.1:p.Gln220LysfsTer19
XM_011518372.1:c.658_661del XP_011516674.1:p.Gln220LysfsTer19
XM_011518373.1:c.658_661del XP_011516675.1:p.Gln220LysfsTer19
XM_011518374.1:c.658_661del XP_011516676.1:p.Gln220LysfsTer19
XM_011518375.1:c.658_661del XP_011516677.1:p.Gln220LysfsTer19
XM_011518376.1:c.658_661del XP_011516678.1:p.Gln220LysfsTer19
XM_011518377.1:c.658_661del XP_011516679.1:p.Gln220LysfsTer19
XM_011518378.1:c.658_661del XP_011516680.1:p.Gln220LysfsTer19
XM_011518379.1:c.589_592del XP_011516681.1:p.Gln197LysfsTer19
XM_011518380.1:c.658_661del XP_011516682.1:p.Gln220LysfsTer19
XM_011518381.1:c.472_475del XP_011516683.1:p.Gln158LysfsTer19
XM_011518382.1:c.472_475del XP_011516684.1:p.Gln158LysfsTer19
XM_011518383.1:c.472_475del XP_011516685.1:p.Gln158LysfsTer19
XM_011518384.1:c.472_475del XP_011516686.1:p.Gln158LysfsTer19
XM_011518385.1:c.472_475del XP_011516687.1:p.Gln158LysfsTer19
XM_011518386.1:c.658_661del XP_011516688.1:p.Gln220LysfsTer19
XM_011518387.1:c.658_661del XP_011516689.1:p.Gln220LysfsTer19
XM_011518388.1:c.658_661del XP_011516690.1:p.Gln220LysfsTer19
XM_011518389.1:c.658_661del XP_011516691.1:p.Gln220LysfsTer19
XM_011518390.1:c.262_265del XP_011516692.1:p.Gln88LysfsTer19
XM_011518391.1:c.658_661del XP_011516693.1:p.Gln220LysfsTer19
NM_001351496.1:c.658_661del VV NP_001338425.1:p.Gln220LysfsTer19
NM_001351497.1:c.589_592del VV NP_001338426.1:p.Gln197LysfsTer19
NM_001351498.1:c.658_661del VV NP_001338427.1:p.Gln220LysfsTer19
NM_001351499.1:c.262_265del VV NP_001338428.1:p.Gln88LysfsTer19
NM_001351500.1:c.262_265del VV NP_001338429.1:p.Gln88LysfsTer19
NM_001351501.1:c.262_265del VV NP_001338430.1:p.Gln88LysfsTer19
NM_001351502.1:c.262_265del VV NP_001338431.1:p.Gln88LysfsTer19
NR_147213.1:n.874_877del
NR_147214.1:n.782_785del
XM_011518368.2:c.658_661del XP_011516670.1:p.Gln220LysfsTer19
XM_011518369.2:c.658_661del XP_011516671.1:p.Gln220LysfsTer19
XM_011518370.2:c.658_661del XP_011516672.1:p.Gln220LysfsTer19
XM_011518371.2:c.658_661del XP_011516673.1:p.Gln220LysfsTer19
XM_011518373.2:c.658_661del XP_011516675.1:p.Gln220LysfsTer19
XM_011518374.2:c.658_661del XP_011516676.1:p.Gln220LysfsTer19
XM_011518375.2:c.658_661del XP_011516677.1:p.Gln220LysfsTer19
XM_011518376.2:c.658_661del XP_011516678.1:p.Gln220LysfsTer19
XM_011518378.2:c.658_661del XP_011516680.1:p.Gln220LysfsTer19
XM_011518379.2:c.589_592del XP_011516681.1:p.Gln197LysfsTer19
XM_011518381.3:c.472_475del XP_011516683.1:p.Gln158LysfsTer19
XM_011518387.2:c.658_661del XP_011516689.1:p.Gln220LysfsTer19
XM_011518390.2:c.262_265del XP_011516692.1:p.Gln88LysfsTer19
XM_011518391.2:c.658_661del XP_011516693.1:p.Gln220LysfsTer19
XM_017014462.1:c.658_661del XP_016869951.1:p.Gln220LysfsTer19
XM_017014463.1:c.658_661del XP_016869952.1:p.Gln220LysfsTer19
XM_017014464.1:c.658_661del XP_016869953.1:p.Gln220LysfsTer19
XM_017014465.1:c.658_661del XP_016869954.1:p.Gln220LysfsTer19
XM_017014467.1:c.658_661del XP_016869956.1:p.Gln220LysfsTer19
XM_017014468.1:c.658_661del XP_016869957.1:p.Gln220LysfsTer19
XM_017014469.1:c.658_661del XP_016869958.1:p.Gln220LysfsTer19
XM_017014470.1:c.658_661del XP_016869959.1:p.Gln220LysfsTer19
XM_017014472.2:c.472_475del XP_016869961.1:p.Gln158LysfsTer19
XM_017014473.2:c.472_475del XP_016869962.1:p.Gln158LysfsTer19
XM_017014475.1:c.658_661del XP_016869964.1:p.Gln220LysfsTer19
XR_001746242.2:n.1022_1025del
XR_001746243.2:n.1022_1025del
XR_001746244.2:n.1022_1025del
XR_001746245.1:n.872_875del
XR_001746248.1:n.1965_1968del
XR_002956770.1:n.872_875del
NM_001079802.2:c.658_661del VV MANE Preferred NP_001073270.1:p.Gln220LysfsTer19
NM_001198963.2:c.658_661del VV NP_001185892.1:p.Gln220LysfsTer19
NM_001351496.2:c.658_661del VV NP_001338425.1:p.Gln220LysfsTer19
NM_001351497.2:c.589_592del VV NP_001338426.1:p.Gln197LysfsTer19
NM_001351498.2:c.658_661del VV NP_001338427.1:p.Gln220LysfsTer19
NM_001351499.2:c.262_265del VV NP_001338428.1:p.Gln88LysfsTer19
NM_001351500.2:c.262_265del VV NP_001338429.1:p.Gln88LysfsTer19
NM_001351501.2:c.262_265del VV NP_001338430.1:p.Gln88LysfsTer19
NM_001351502.2:c.262_265del VV NP_001338431.1:p.Gln88LysfsTer19
NR_147213.2:n.873_876del
NR_147214.2:n.781_784del
ENST00000223528.6:c.658_661del ENSP00000223528.2:p.Gln220LysfsTer19
ENST00000357998.9:c.658_661del ENSP00000350687.5:p.Gln220LysfsTer19
ENST00000374705.4:c.589_592del ENSP00000363837.4:p.Gln197LysfsTer19
ENST00000448551.6:c.658_661del ENSP00000399140.2:p.Gln220LysfsTer19
ENST00000602526.1:c.*696_*699del ENSP00000473347.1:p.=
ENST00000602661.5:c.658_661del ENSP00000473540.1:p.Gln220LysfsTer19